ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 1 of 1 for:    Familial Study of MPDs, Josef Prchal
Previous Study | Return to List | Next Study

Molecular Biology of Polycythemia and Thrombocytosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00722527
Recruitment Status : Recruiting
First Posted : July 25, 2008
Last Update Posted : November 6, 2017
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Utah

July 23, 2008
July 25, 2008
November 6, 2017
July 2006
July 2020   (Final data collection date for primary outcome measure)
Identify the molecular defect of Polycythemic and Thrombocythemic disorders [ Time Frame: Weekly ]
Identify the molecular defect of a polycythemic disorder [ Time Frame: Weekly ]
Complete list of historical versions of study NCT00722527 on ClinicalTrials.gov Archive Site
Not Provided
Define disease causing lesions of the erythropoietin (EPO) and EPO receptor (EPOR) pathway, as well as test the hypothesis that the EPOR mutations can cause cardiovascular disease. [ Time Frame: Monthly ]
Not Provided
Not Provided
 
Molecular Biology of Polycythemia and Thrombocytosis
Molecular Biology of Polycythemia and Thrombocytosis
Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders. When this is accomplished, new therapies to control and eventually cure the disorder can be designed.

Our hypothesis is that genes and their mutation are causative of certain types of polycythemia and thrombocytosis. These will be sought for by genetic and cell biology means. The purpose of the study is to identify the molecular defect of these disorders.

5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
Whole blood
Non-Probability Sample
Subjects who have polycythemia and thrombocytosis will be included in the study.
  • Polycythemia
  • Thrombocytosis
Not Provided
Affected Population
Subjects with an elevated hemoglobin concentration or an elevated platelet count

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
200
Same as current
July 2020
July 2020   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  1. Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
  2. Subjects with an elevated platelet count (>450,000)

Exclusion Criteria:

  1. Subjects who have a known acquired cause of polycythemia and thrombocytosis
  2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact: Josef T Prchal, MD 801-581-4220 josef.prchal@hsc.utah.edu
Contact: Kim Hickman, BS 801-581-3707 kimberly.hickman@hsc.utah.edu
United States
 
 
NCT00722527
17665
5R01HL050077-13 ( U.S. NIH Grant/Contract )
No
Not Provided
Not Provided
University of Utah
University of Utah
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Josef T. Prchal, MD University of Utah
University of Utah
November 2017